der(1;18)(q10;q10) in a pediatric patient with cytopenias

Adriana Zamecnikova, Soad Al Bahar  

Kuwait Cancer Control Center, Dep of Hematology, Laboratory of Cancer Genetics, Kuwait

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-
Main items
-

Clinics case report

Age
9 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
4.5 (neutrophils = 55%, eosinophils = 2%, lymphocytes = 32%, monocytes = 10%, atypical lymphocytes = 1%)
Hb
11.6
Platelets
149
Blasts
1
Bone marrow
Bone marrow studies showed myeloid maturation arrest, intermittent neutropenia with normal erythropoiesis and megakaryocytes.

Cyto path

Cytology
NA
Immunophenotype
Not done
Precise diagnosis
MDS - unclassified

Survival data

Date diagnosis
03-2012
Treatment
No therapy
Treatment relat death
-
Relapse
-
Status
A
Date last follow
06-2012
Survival
12+

Karyotype

Sample
Bone marrow
Culture time
24
Banding
GTG
Results
46,XY,+1,der(1;18)(q10;q10) [5]/ 46,XY [25]
Mol cytogenet technics
Fluorescence in situ hybridization applying the LSI 1p36/1q25 probe (Abbott).
Mol cytogenet results
Two signals for 1p36 locus with 3 signals for 1q25 locus in 20% of bone marrow cells.

Images

Atlas Image
(A) Partial karyotype of the patient showing the der(18)t(1;18)(q10;q10). (B) C-banded partial karyotype showing the der(1;18)(q10;q10) chromosome. (C) Fluorescence in situ hybridization with LSI 1p36/1q25 probe (Abott) showing 3 copies of the 1q25 locus in two nuclei (green signal; arrow).

Comments section

Comments
This study reports the presence of an unbalanced translocation between chromosome 1 and chromosome 18 in a in a pediatric patient with persistent thrombocytopenia and intermittent neutropenia. Unbalanced translocations involving the long arm of chromosome 1 and different partners are recurrent cytogenetic abnormalities, mainly reported in myeloid neoplasms. Centromeric fusion between chromosome 1 and chromosome 18, leading to a gain of 1q and loss of 18p, is rarely observed. This abnormality is relatively restricted to myelodysplastic syndromes and myloproliferative disorders, indicating that gain of 1q and/or loss of 18p should be relevant for neoplastic transformation in these diseases.

Bibliography

Pubmed IDLast YearTitleAuthors
86309041995Centromeric instability of chromosome 1 resulting in multibranched chromosomes, telomeric fusions, and "jumping translocations" of 1q in a human immunodeficiency virus-related non-Hodgkin's lymphoma.Sawyer JR et al
76254461995Chromosome instability in ICF syndrome: formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization.Sawyer JR et al
87805571996Centromeric instability of chromosome 1 resulting in multibranched chromosomes, telomeric fusions, and "jumping translocations" of 1q in a human immunodeficiency virus-related non-Hodgkin's lymphoma.Polito P et al
114544272001Derivative (1;18)(q10;q10): a recurrent and novel unbalanced translocation involving 1q in myeloid disorders.Wan TS et al
200021542010Chromosome 1 abnormalities in myeloid malignancies: a literature survey and karyotype-phenotype associations.Caramazza D et al

Citation

Adriana Zamecnikova, Soad Al Bahar

der(1;18)(q10;q10) in a pediatric patient with cytopenias

Atlas Genet Cytogenet Oncol Haematol. 2013-07-01

Online version: http://atlasgeneticsoncology.org/case-report/208869/der(1;18)(q10;q10)-in-a-pediatric-patient-with-cytopenias